| 基因名 | 突变 |
|---|---|
| NEDD9(NM_001142393,neural precursor cell expressed, developmentally down-regulated 9,834aa) | g.6:11190358C>T,c.1744G>A,p.G582S |
| NEDD8-MDP1(NM_001199823,NEDD8-MDP1 readthrough,193aa) | g.14:24683304C>A,c.508G>T,p.G170W |
| NEDD8-MDP1(NM_001199823,NEDD8-MDP1 readthrough,193aa) | g.14:24683267del,c.545del,p.182fs |
| NEDD4(NM_198400,neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase,1247aa) | g.15:56209025G>A,c.5C>T,p.A2V |
| NEDD4(NM_198400,neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase,1247aa) | g.15:56209001G>C,c.29C>G,p.A10G |
| NEDD4(NM_198400,neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase,1247aa) | g.15:56208943G>T,c.87C>A,p.S29R |
| NEDD4(NM_198400,neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase,1247aa) | g.15:56208933T>C,c.97A>G,p.M33V |
| NEDD4(NM_198400,neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase,1247aa) | g.15:56208822C>G,c.208G>C,p.E70Q |
| NEDD4(NM_198400,neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase,1247aa) | g.15:56208611A>T,c.419T>A,p.L140H |
| NEDD4(NM_198400,neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase,1247aa) | g.15:56208534C>T,c.496G>A,p.G166S |
| NEDD4(NM_198400,neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase,1247aa) | g.15:56208504T>C,c.526A>G,p.T176A |
| NEDD4(NM_198400,neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase,1247aa) | g.15:56208476A>T,c.554T>A,p.V185D |
| NEDD4(NM_198400,neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase,1247aa) | g.15:56208463A>C,c.567T>G,p.S189R |
| NEDD4(NM_198400,neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase,1247aa) | g.15:56208227A>G,c.803T>C,p.I268T |
| NEDD4(NM_198400,neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase,1247aa) | g.15:56208108G>A,c.922C>T,p.H308Y |
| NEDD4(NM_198400,neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase,1247aa) | g.15:56207811T>G,c.1219A>C,p.N407H |
| NEDD4(NM_198400,neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase,1247aa) | g.15:56207594C>T,c.1436G>A,p.G479E |
| NEDD4(NM_198400,neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase,1247aa) | g.15:56152962T>C,c.1730A>G,p.D577G |
| NEDD4(NM_198400,neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase,1247aa) | g.15:56152872C>T,c.1820G>A,p.R607Q |
| NEDD4(NM_198400,neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase,1247aa) | g.15:56152729T>C,c.1877A>G,p.N626S |
| NEDD4(NM_198400,neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase,1247aa) | g.15:56148337G>A,c.2059C>T,p.L687F |
| NEDD4(NM_198400,neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase,1247aa) | g.15:56144629G>A,c.2180C>T,p.T727I |
| NEDD4(NM_198400,neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase,1247aa) | g.15:56142853C>T,c.2275G>A,p.V759M |
| NEDD4(NM_198400,neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase,1247aa) | g.15:56142798C>T,c.2330G>A,p.R777Q |
| NEDD4(NM_198400,neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase,1247aa) | g.15:56140746C>T,c.2497G>A,p.D833N |
| NEDD4(NM_198400,neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase,1247aa) | g.15:56134327C>T,c.2684G>A,p.R895H |
| NEDD4(NM_198400,neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase,1247aa) | g.15:56134300T>C,c.2711A>G,p.Y904C |
| NEDD4(NM_198400,neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase,1247aa) | g.15:56134297C>T,c.2714G>A,p.R905Q |